The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

por Nicolau, Stefan, Milone, Margherita
Publicado 2019

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

por Nicolau, Stefan, Howe, Benjamin M., Naddaf, Elie
Publicado 2020

Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls

por Nicolau, Stefan, Liewluck, Teerin, Tracy, Jennifer A., Laughlin, Ruple S., Milone, Margherita
Publicado 2019

GYG1: A distal myopathy with polyglucosan bodies

por Nicolau, Stefan, Tracy, Jennifer A., Pisapia, David J., Tanji, Kurenai, Milone, Margherita
Publicado 2020

Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies

por Vetter, Tatyana A., Nicolau, Stefan, Bradley, Adrienne J., Frair, Emma C., Flanigan, Kevin M.
Publicado 2021

Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

por Nicolau, Stefan, Dasgupta, Aneesha, Dasari, Surendra, Charlesworth, M. Cristine, Johnson, Kenneth L., Pandey, Akhilesh, Doles, Jason D., Milone, Margherita
Publicado 2023

Imported Haycocknema perplexum Infection, United States

por Pritt, Bobbi S., Mathison, Blaine A., Bradbury, Richard S., Liewluck, Teerin, Nicolau, Stefan, O’Horo, John C., Grunst, David, Pinto, Marcus V., Swanson, Amy A., Virk, Abinash
Publicado 2022

CRISPR-Cas9 homology-independent targeted integration of exons 1–19 restores full-length dystrophin in mice

por Stephenson, Anthony A., Nicolau, Stefan, Vetter, Tatyana A., Dufresne, Gabrielle P., Frair, Emma C., Sarff, Jessica E., Wheeler, Gregory L., Kelly, Benjamin J., White, Peter, Flanigan, Kevin M.
Publicado 2023

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

por Ducharme-Smith, Allison, Nicolau, Stefan, Chahal, C. Anwar A., Ducharme-Smith, Kirstie, Rehman, Shujah, Jaliparthy, Keerthi, Khan, Nadeem, Scott, Christopher G., St Louis, Erik K., Liewluck, Teerin, Somers, Virend K., Lin, Grace, Brady, Peter A., Milone, Margherita
Publicado 2021

Expanded genetic insight and clinical experience of DNMT1-complex disorder

por Bi, Hongyan, Hojo, Kaori, Watanabe, Masashi, Yee, Christina, Maski, Kiran, Saba, Sadaf, Graff-Radford, Jonathan, Machulda, Mary M., St Louis, Erik K., Humes, Ilona Spitsyna, Flanagan, Eoin P., Nicolau, Stefan, Jones, David T., Patterson, Marc C., Kotagal, Suresh, Raz, Yael, Niu, Zhiyv, Li, Jun, Klein, Christopher J.
Publicado 2020